Wilson’s Disease

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4 Terms

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Wilson’s Disease

  • Autosomal recessive

  • Excessive accumulation of copper in liver

  • Mutation in ATP7B copper binding protein in chromosome 13

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Features Of Wilson’s Disease

  • Affects teens or young adults

  • Liver problems e..g cirrhosis or chronic hepatitis

  • Neurological symptoms e.g. tremor, dystonia, tremor

  • Depression

  • Psychosis

  • Kayser-fleischer rings in cornea

  • Haemolytic anaemia

<ul><li><p>Affects teens or young adults</p></li><li><p>Liver problems e..g cirrhosis or chronic hepatitis </p></li><li><p>Neurological symptoms e.g. tremor, dystonia, tremor </p></li><li><p>Depression </p></li><li><p>Psychosis </p></li><li><p>Kayser-fleischer rings in cornea </p></li><li><p>Haemolytic anaemia </p></li></ul><p></p>
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Diagnosis Of Wilson’s Disease

  • Serum caeruloplasmin

  • 24 hour urine copper assay

  • Liver biopsy

  • Slit lamp examination for kayser-fleischer rings

  • MRI brain → double panda sign

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Management Of Wilson’s Disease

  • Penicillamine

  • Tridentine

  • Zinc salts

  • Liver transplant